Canonical Allele Identifier: CA1473490

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 646561
• ClinVar RCV Id: RCV000800872 ; RCV002458460
• dbSNP Id: rs745317077
• ExAC: 1:236925788 C / T
• gnomAD v2: 1-236925788-C-T
• gnomAD v3: 1-236762488-C-T
• gnomAD v4: 1-236762488-C-T
• COSMIC: COSM236676 ; COSM4233963
• MyVariant Identifiers: chr1:g.236925788C>T (hg19) ; chr1:g.236762488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762488C>T , CM000663.2:g.236762488C>T	GRCh38
NC_000001.10:g.236925788C>T , CM000663.1:g.236925788C>T	GRCh37
NC_000001.9:g.234992411C>T	NCBI36
NG_009081.1:g.81019C>T
NG_009081.2:g.103348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2554C>T	ENSP00000443495.1:p.Arg852Trp
ENST00000461367.2:n.850C>T
ENST00000492634.7:n.2484C>T
ENST00000682015.1:c.2461C>T	ENSP00000506961.1:p.Arg821Trp
ENST00000682490.1:n.472C>T
ENST00000682692.1:n.3649C>T
ENST00000682966.1:n.8195C>T
ENST00000683111.1:c.*1840C>T	ENSP00000507913.1:n.*1840C>T
ENST00000683322.1:n.3906C>T
ENST00000683805.1:n.1345C>T
ENST00000684050.1:n.5192C>T
ENST00000684122.1:n.1988C>T
ENST00000684286.1:n.4109C>T
ENST00000684502.1:n.3851C>T
ENST00000684763.1:n.1169C>T
ENST00000366578.6:c.2554C>T MANE Select	ENSP00000355537.4:p.Arg852Trp
ENST00000492634.6:n.2484C>T
ENST00000542672.6:c.2554C>T	ENSP00000443495.1:p.Arg852Trp
ENST00000651091.1:c.2244C>T	ENSP00000498677.1:n.2244C>T
ENST00000651275.1:c.2446C>T	ENSP00000498926.1:p.Arg816Trp
ENST00000651781.1:c.1634C>T
ENST00000651786.1:c.*1926C>T	ENSP00000498364.1:n.*1926C>T
ENST00000652096.1:c.*1959C>T	ENSP00000498896.1:n.*1959C>T
ENST00000366578.5:c.2554C>T	ENSP00000355537.4:p.Arg852Trp
ENST00000461367.1:n.763C>T
ENST00000542672.5:c.2554C>T	ENSP00000443495.1:p.Arg852Trp
ENST00000546208.5:c.1930C>T	ENSP00000438384.2:p.Arg644Trp
NM_001103.3:c.2554C>T	NP_001094.1:p.Arg852Trp
NM_001278343.1:c.2554C>T	NP_001265272.1:p.Arg852Trp
NM_001278344.1:c.1930C>T	NP_001265273.1:p.Arg644Trp
NM_001278343.2:c.2554C>T	NP_001265272.1:p.Arg852Trp
NM_001103.4:c.2554C>T MANE Select	NP_001094.1:p.Arg852Trp
NM_001278344.2:c.1930C>T	NP_001265273.1:p.Arg644Trp